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Literature summary for 1.1.1.213 extracted from

  • Milivojevic, V.; Feinn, R.; Kranzler, H.R.; Covault, J.
    Variation in AKR1C3, which encodes the neuroactive steroid synthetic enzyme 3alpha-HSD type 2 (17beta-HSD type 5), moderates the subjective effects of alcohol (2014), Psychopharmacology, 231, 3597-3608.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
genetic variation in a region of chromosome 10 containing the genes AKR1C1, AKR1C3 and AKR1C4, which encode 3 isoforms of 3alpha-HSD Homo sapiens

Protein Variants

Protein Variants Comment Organism
H5Q a naturally occuring non-synonymous single nucleotide polymorphism (SNP), rs12529 C>G or AKR1C3-2 in exon 1 of AKR1C3 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P42330
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-

Synonyms

Synonyms Comment Organism
17beta-HSD type 5
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Homo sapiens
3alpha-HSD
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Homo sapiens
3alpha-HSD type 2
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Homo sapiens
3alpha-hydroxysteroid dehydrogenase
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Homo sapiens
AKR1C3
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Homo sapiens

General Information

General Information Comment Organism
malfunction comparison of a common non-synonymous polymorphism, AKR1C3-2 in the gene encoding the enzyme 3alpha-HSD2/17beta-HSD5 and a synonymous SNP, rs248793, in SRD5A1, which encodes 5alpha-reductase: for caucasian males, carriers of the alcohol dependence-protective AK1C3-2 G-allele have higher levels of 5alpha-androstane-3alpha1beta-diol relative to the precursor 3alpha,5alpha-androsterone than C-allele homozygotes. AKR1C3-2 G-allele carriers exhibit greater increases in heart rate and stimulant and sedative effects of alcohol than C-allele homozygotes Homo sapiens
physiological function the enzyme 3alpha-hydroxysteroid dehydrogenase is involved in neuroactive steroid biosynthesis. Genetic variation in a region of chromosome 10 containing the genes AKR1C1, AKR1C3 and AKR1C4, which encode 3 isoforms of 3alpha-HSD, is associated with variation in subjective alcohol response. Enzyme mutant variant H5Q is associated with reduced risk of both alcohol dependence and bladder cancer, moderates the stimulant or sedative effects of alcohol Homo sapiens